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HSFY1 heat shock transcription factor Y-linked 1 [ Homo sapiens (human) ]

Gene ID: 86614, updated on 27-Nov-2024

Summary

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Official Symbol
HSFY1provided by HGNC
Official Full Name
heat shock transcription factor Y-linked 1provided by HGNC
Primary source
HGNC:HGNC:18568
See related
Ensembl:ENSG00000172468 MIM:400029; AllianceGenome:HGNC:18568
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HSFY; HSF2L
Summary
This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward testis (RPKM 15.9) See more
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Genomic context

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See HSFY1 in Genome Data Viewer
Location:
Yq11.222
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (18529643..18588963)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (19436129..19495418)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (20708577..20750849)

Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905304 Neighboring gene USP9Y pseudogene 5 Neighboring gene XK related, Y-linked pseudogene 1 Neighboring gene elongin C pseudogene 7 Neighboring gene PTPN13 like Y-linked pseudogene 5 Neighboring gene USP9Y pseudogene 1 Neighboring gene AZFb P4.1 recombination region Neighboring gene glycoprotein M6B pseudogene 1 Neighboring gene testis expressed transcript, Y-linked 9B Neighboring gene OFD1 pseudogene 5 Y-linked Neighboring gene trafficking protein particle complex 2 pseudogene 7 Neighboring gene RAB9A, member RAS oncogene family pseudogene 4 Neighboring gene OFD1 pseudogene 6 Y-linked Neighboring gene testis expressed transcript, Y-linked 9A Neighboring gene heat shock transcription factor Y-linked 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Characterization of HSFY, a novel AZFb gene on the Y chromosome with a possible role in human spermatogenesis. Tessari A, et al. Mol Hum Reprod, 2004 Apr. PMID 14985478
  2. Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia. Stahl PJ, et al. Asian J Androl, 2012 Sep. PMID 22820855, Free PMC Article
  3. HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation. Kichine E, et al. Hum Reprod, 2012 Feb. PMID 22158087
  4. Molecular characterization of heat shock-like factor encoded on the human Y chromosome, and implications for male infertility. Shinka T, et al. Biol Reprod, 2004 Jul. PMID 15044259
  5. Y Chromosome Infertility. Adam MP, et al. , 1993. PMID 20301513

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. data indicate that CDY2 and HSFY are located within a segment of the Y chromosome that is important for sperm maturation, and are underexpressed in testicular tissue derived from men with MA
    Title: Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia.
  2. genetic association studies: Data from 4 unrelated azoospermic patients in France with Y chromosome deletions exclude HSFY1/HSF2 genes as factors in AZFb/P4 palindrome haplogroup required for spermatogenesis.
    Title: HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation.
  3. Could have an important role in human spermatogenesis.
    Title: Characterization of HSFY, a novel AZFb gene on the Y chromosome with a possible role in human spermatogenesis.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Spermatogenic failure, Y-linked, 2
MedGen: C1839071 OMIM: 415000 GeneReviews: Y Chromosome Infertility
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • AC022486.1

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
heat shock transcription factor, Y-linked
Names
heat shock transcription factor 2-like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012030.2 RefSeqGene

    Range
    22079..23951
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001425398.1 → NP_001412327.1  heat shock transcription factor, Y-linked isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC022486

  2. NM_033108.3 → NP_149099.2  heat shock transcription factor, Y-linked isoform 1

    See identical proteins and their annotated locations for NP_149099.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1) of this protein. Isoform 1 has an HSF-type DNA-binding motif.
    Source sequence(s)
    BC036567, BX281920
    Consensus CDS
    CCDS35475.1
    UniProtKB/Swiss-Prot
    Q17RC0, Q7Z4L8, Q96LI6, Q9BZA2, Q9BZA3
    Related
    ENSP00000303599.2, ENST00000307393.3
    Conserved Domains (1) summary
    pfam00447
    Location:80 → 194
    HSF_DNA-bind; HSF-type DNA-binding

  3. NM_152584.1 → NP_689797.1  heat shock transcription factor, Y-linked isoform 2

    See identical proteins and their annotated locations for NP_689797.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes a different exon in the 3' coding region, resulting in a frameshift and earlier termination codon, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus compared to isoform 1. Isoform 2 lacks the HFS-type DNA-binding domain found in isoform 1.
    Source sequence(s)
    AF332226
    Consensus CDS
    CCDS14790.1
    UniProtKB/Swiss-Prot
    Q96LI6
    Related
    ENSP00000311166.4, ENST00000309834.8
    Conserved Domains (1) summary
    pfam00447
    Location:86 → 154
    HSF_DNA-bind; HSF-type DNA-binding

RNA

  1. NR_003510.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 3' splice pattern, compared to variant 1. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the transcript is a candidate for nonsense-mediated decay (NMD).
    Source sequence(s)
    AJ566404
    Related
    ENST00000338876.8

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

    Range
    18529643..18588963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017030085.3 → XP_016885574.1  heat shock transcription factor, Y-linked isoform X1

RNA

  1. XR_007068453.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060948.1 Alternate T2T-CHM13v2.0

    Range
    19436129..19495418
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054328389.1 → XP_054184364.1  heat shock transcription factor, Y-linked isoform X1

RNA

  1. XR_008485530.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001001871.1: Suppressed sequence

    Description
    NM_001001871.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96LI6.1 GenPept UniProtKB/Swiss-Prot:Q96LI6

Gene LinkOut

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